ABOUT BATTEN
What is it and how do you inherit Batten disease?
Batten disease is one of approximately 50 diseases called lysosomal storage disorders (LSD), meaning that genetic mutations disrupt the cells ability to dispose of wastes. With Batten disease, cells are thrown out of balance with the build-up of proteins and lipids (fats).
Because of these damaged cells, patients with Batten disease suffer progressive neurological impairment, which includes:
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Seizures
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Visual impairment/blindness
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Personality and behavior changes
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Dementia
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Loss of motor skills and the ability to walk, talk and communicate
Because of widely varying genetic mutations, the arc of Batten disease can vary tremendously for each person. Sadly, until more strides are made in research, treatments and cures, Batten results in an early death of our children and adults.
Though recent improvements in genetic testing have made diagnosing Batten disease much quicker and more reliable, families tell of very long diagnostic journeys, often years after the first signs of seizures or loss of sight. In a recent needs assessment completed by BDSRA, more than 30 different diagnoses were reported by families before the final Batten diagnostic determination. Autism, seizure disorder, epilepsy, PDD and others are common early diagnoses. Read more at http://bdsra.org/what-is-batten-disease/
It is an autosomal recessive genetic disease. This means, you can carry one copy of the mutated gene, like I do and not be affected. Even though my husband and I both carry the gene, only one was passed on to our son, so he is only a carrier and will not have the disease. If a child inherits the gene from both mom and dad, they will have Batten disease, which is devastating and fatal. One form of the disease (CNL2) has an enzyme replacement therapy that has shown progress in patients. We are very hopeful that this treatment is going to help so many more children now that it is FDA approved. There are 13 other known forms of Batten disease without an approved treatment.
What is CNL2?
CLN2 is only one of several types of Batten Disease. If you think of Batten Disease like an umbrella and beneath it fall somewhere around 14 different types of this disease. They all mimic each other in symptoms and eventual outcome, but there are some key differences. For example, CLN2 is the classic late infantile meaning symptoms come on anywhere between 2-4 years of age and this particular type is fatal between the ages of 6-12 years old. One other very big difference is the main cause of the disease. All types are genetic, but each type is associated with it's own gene. The gene that is mutated in Ely is called the TPP1 gene and it's function is to produce the TPP1 enzyme. The job of this enzyme is to clean up the cells from the proteins and fats that build up. In all of us, this enzyme recycles this waste out and keeps our cells healthy. Since this enzyme is missing in CLN2 kids, the waste begins to build up. As the build up happens, the symptoms begin to present themselves. The cells are becoming damaged through this process and eventually die. Once a cell dies it cannot be brought back. The enzyme replacement therapy Ely is undergoing is specifically for this type of Batten Disease as it is the missing TPP1 enzyme. It will not work for any other type of Batten, but we hope that what we are learning through this treatment will soon help other types!
Where can families go for support?
There is a wonderful organization, The Batten Disease Support and Research Association (BDSRA) based in Columbus, Ohio that is dedicated to Batten families. My family has personally received incredible support and resources from them, and they are the only organization in North America dedicated to serving families with ALL forms of Batten disease. BDSRA funds scientific research, offers support services to Batten families and educators, and advocates for legislative action. The organization was founded in 1987 by parents seeking to build a network for those diagnosed with this rare genetic disease and create a better future for their kids.
WHAT CAN YOU DO?
Contribute to the emergency fund for Batten families.
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